Variant report

Variant	rs567474783
Chromosome Location	chr15:78441359-78441360
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:78441252-78442286	GM18951	blood:	n/a	n/a
2	SIN3A	chr15:78441286-78442303	GM12878	blood:	n/a	chr15:78441700-78441711 chr15:78441971-78441984
3	MAX	chr15:78441328-78442012	SK-N-SH	brain:	n/a	chr15:78441858-78441867
4	CUX1	chr15:78441260-78441629	GM12878	blood:	n/a	n/a
5	RUNX3	chr15:78441225-78442305	GM12878	blood:	n/a	chr15:78442235-78442252
6	POLR2A	chr15:78441087-78442224	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr15:78441197-78441918	HCT-116	colon:	n/a	n/a
8	POLR2A	chr15:78440576-78441987	MCF10A-Er-Src	breast:	n/a	n/a
9	TEAD4	chr15:78441199-78441745	K562	blood:	n/a	n/a
10	TAF1	chr15:78441318-78441622	GM12892	blood:	n/a	n/a
11	POLR2A	chr15:78441249-78441936	K562	blood:	n/a	n/a
12	TAF1	chr15:78441329-78441847	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:78441316-78442189	A549	lung:	n/a	n/a
14	MAX	chr15:78441176-78442504	A549	lung:	n/a	chr15:78441858-78441867
15	TAF1	chr15:78441260-78441590	GM12891	blood:	n/a	n/a
16	PAX5	chr15:78441329-78441871	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:78441166-78441583	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:78441048-78442365	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:78441229-78442056	H1-neurons	neurons:	n/a	n/a
20	GABPA	chr15:78441021-78441901	MCF-7	breast:	n/a	chr15:78441695-78441704 chr15:78441693-78441704 chr15:78441693-78441707
21	TAF7	chr15:78441311-78441673	H1-hESC	embryonic stem cell:	n/a	n/a
22	HCFC1	chr15:78440450-78442802	Hela-S3	cervix:	n/a	n/a
23	ELF1	chr15:78441172-78441873	SK-N-SH	brain:	n/a	chr15:78441513-78441526
24	POLR2A	chr15:78441119-78441966	PANC-1	pancreas:	n/a	n/a
25	PML	chr15:78440981-78442074	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:78441118-78442029	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:78441342-78442109	HepG2	liver:	n/a	n/a
28	ELF1	chr15:78441179-78441880	K562	blood:	n/a	chr15:78441513-78441526
29	FOS	chr15:78441252-78441655	MCF10A-Er-Src	breast:	n/a	chr15:78441547-78441559
30	FOS	chr15:78441264-78441651	MCF10A-Er-Src	breast:	n/a	chr15:78441547-78441559
31	RCOR1	chr15:78441313-78442165	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr15:78441286-78441563	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr15:78441170-78441980	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr15:78441252-78442231	K562	blood:	n/a	n/a
35	USF2	chr15:78441342-78441561	Hela-S3	cervix:	n/a	n/a
36	PML	chr15:78441277-78441902	K562	blood:	n/a	n/a
37	GABPA	chr15:78441057-78441812	SK-N-SH	brain:	n/a	chr15:78441695-78441704 chr15:78441693-78441704 chr15:78441693-78441707
38	STAT5A	chr15:78441176-78441615	GM12878	blood:	n/a	chr15:78441486-78441506
39	POLR2A	chr15:78441312-78441607	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr15:78441323-78442145	GM12878	blood:	n/a	chr15:78441858-78441867
41	ELF1	chr15:78441115-78441804	HCT-116	colon:	n/a	chr15:78441513-78441526
42	NFIC	chr15:78441343-78441789	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr15:78441250-78442659	Raji	blood:	n/a	n/a
44	RELA	chr15:78441228-78442304	GM15510	blood:	n/a	n/a
45	MAX	chr15:78441340-78442402	MCF-7	breast:	n/a	chr15:78441858-78441867
46	MAX	chr15:78441351-78442313	K562	blood:	n/a	chr15:78441858-78441867
47	GABPA	chr15:78441235-78441739	HL-60	blood:	n/a	chr15:78441695-78441704 chr15:78441693-78441704 chr15:78441693-78441707
48	MYC	chr15:78441357-78441809	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr15:78441229-78442923	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr15:78441311-78442053	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78441071..78441786-chr3:23959166..23959779,2	Hela-S3	cervix:
2	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
3	chr15:78440397..78443186-chr15:78499689..78503898,3	MCF-7	breast:
4	chr15:78439170..78443635-chr15:78452310..78455814,4	K562	blood:
5	chr15:78440356..78444633-chr15:78445807..78449726,8	K562	blood:
6	chr15:78440859..78443747-chr15:78450376..78455479,5	K562	blood:
7	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
8	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
9	chr15:78433535..78435923-chr15:78440184..78443056,4	K562	blood:
10	chr14:45430537..45431179-chr15:78441265..78442106,2	Hela-S3	cervix:
11	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:
12	chr15:78440947..78441580-chr16:74734168..74734671,2	Hela-S3	cervix:
13	chr15:78440410..78443288-chr15:78589688..78592209,3	K562	blood:

Variant related genes	Relation type
IDH3A	TF binding region
ENSG00000174748	Chromatin interaction
ENSG00000136425	Chromatin interaction
ENSG00000103740	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000140395	Chromatin interaction
ENSG00000260988	Chromatin interaction
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv948437	chr15:78435527-78504662	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3340405	chr15:78440522-78443070	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78440200-78442400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:78440600-78441400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr15:78440600-78441400	Flanking Active TSS	Hela-S3	cervix
4	chr15:78440600-78441400	Flanking Active TSS	NHEK	skin
5	chr15:78440600-78441800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:78440600-78442000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:78440600-78442200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr15:78440600-78442400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr15:78440600-78442400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:78440600-78442400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr15:78440600-78442400	Active TSS	Colonic Mucosa	Colon
12	chr15:78440600-78442400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr15:78440600-78442400	Active TSS	Fetal Brain Male	brain
14	chr15:78440600-78442600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:78440600-78442600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:78440800-78441400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr15:78440800-78441400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr15:78440800-78441400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:78440800-78441400	Weak transcription	Lung	lung
20	chr15:78440800-78441400	Weak transcription	Pancreas	Pancrea
21	chr15:78440800-78441400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr15:78440800-78441400	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr15:78440800-78441600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:78440800-78441600	Weak transcription	Esophagus	oesophagus
25	chr15:78440800-78441600	Weak transcription	Gastric	stomach
26	chr15:78440800-78441800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:78440800-78442000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr15:78440800-78442200	Active TSS	Brain Hippocampus Middle	brain
29	chr15:78440800-78442200	Active TSS	Colon Smooth Muscle	Colon
30	chr15:78440800-78442400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr15:78440800-78442400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:78440800-78442400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:78440800-78442400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:78440800-78442600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr15:78440800-78442800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:78440800-78442800	Active TSS	Brain Germinal Matrix	brain
37	chr15:78440800-78442800	Active TSS	HSMMtube	muscle
38	chr15:78440800-78443400	Active TSS	Right Atrium	heart
39	chr15:78441000-78441400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr15:78441000-78441400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:78441000-78441400	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr15:78441000-78441400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr15:78441000-78441400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr15:78441000-78441800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:78441000-78441800	Weak transcription	Spleen	Spleen
46	chr15:78441000-78441800	Active TSS	HepG2	liver
47	chr15:78441000-78442000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:78441000-78442000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:78441000-78442200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr15:78441000-78442200	Active TSS	H1 Cell Line	embryonic stem cell

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